MCID: XRD010
MIFTS: 58

Xeroderma Pigmentosum, Variant Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 12diseasecard, 66UMLS, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 48Novoseek, 37MeSH, 68UniProtKB/Swiss-Prot, 52Orphanet, 25GTR, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 50 46 12 66
Xeroderma Pigmentosum 11 69 22 46 23 24 13 12 48 37
Xpv 46 52 68
Xp 46 23 24
Xeroderma Pigmentosum with Normal Dna Repair Rates 46 68
Xeroderma Pigmentosum Variant Type 68 25
 
Desanctis-Cacchione Syndrome 23 24
Xeroderma Pigmentosa 46 23
Photosensitivity with Defective Dna Synthesis 46
Xeroderma Pigmentosum Variant 52
De Sanctis-Cacchione Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

62
xeroderma pigmentosum, variant type:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 278750
Disease Ontology11 DOID:0050427
ICD1028 Q82.1
MeSH37 D014983
NCIt43 C3452
SNOMED-CT60 44600005
Orphanet52 ORPHA90342
ICD10 via Orphanet29 Q82.1
MESH via Orphanet38 C536766
UMLS via Orphanet67 C0432328, C1848410
MedGen35 C1848410
UMLS66 C0043346

Summaries for Xeroderma Pigmentosum, Variant Type

About this section
NIH Rare Diseases:46 Xeroderma pigmentosum (xp) is an inherited condition characterized by an extreme sensitivity to ultraviolet (uv) rays from sunlight. this condition mostly affects the eyes and areas of skin exposed to the sun. some affected individuals also have problems involving the nervous system. symptoms typically develop by the time a child is 2 years old. xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged dna. inherited mutations in at least nine genes have been identified. the condition is inherited in an autosomal recessive manner. people with xp need total protection from sunlight. this includes protective clothing, sunscreen, and dark sunglasses when out in the sun. to prevent skin cancer, medications like retinoid creams may be prescribed. skin cancers that do develop should be treated using standard practices. last updated: 6/24/2016

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, group c and xeroderma pigmentosum, group b, and has symptoms including cutaneous photosensitivity, poikiloderma and freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways are RNA Polymerase I Promoter Escape and Fanconi anemia pathway. Affiliated tissues include skin and eye, and related mouse phenotypes are adipose tissue and liver/biliary system.

Disease Ontology:11 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of dna repair.

UniProtKB/Swiss-Prot:68 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference:24 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM:50 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

Wikipedia:69 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

Related Diseases for Xeroderma Pigmentosum, Variant Type

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Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 9 Xeroderma Pigmentosum, Type 2
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group c34.3DDB2, ERCC5, RAD23B, XPC
2xeroderma pigmentosum, group b33.9ERCC2, ERCC3
3de sanctis-cacchione syndrome32.0ERCC2, ERCC5, ERCC6
4cerebrooculofacioskeletal syndrome 130.8ERCC6, ERCC8
5cerebrooculofacioskeletal syndrome 230.7ERCC2, ERCC3, XPC, XRCC1
6lung cancer28.7ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, TP53
7xeroderma pigmentosum, group g12.6
8xeroderma pigmentosum, group f12.6
9xeroderma pigmentosum, group d12.5
10xeroderma pigmentosum, group a12.5
11xeroderma pigmentosum, group e, ddb-negative subtype12.4
12xeroderma pigmentosum-cockayne syndrome complex12.3
13xeroderma pigmentosum, type 912.2
14ercc1-related xeroderma pigmentosum12.1
15xeroderma pigmentosum, type 212.1
16ddb2-related xeroderma pigmentosum12.1
17ercc2-related xeroderma pigmentosum12.1
18ercc3-related xeroderma pigmentosum12.1
19ercc4-related xeroderma pigmentosum12.1
20ercc5-related xeroderma pigmentosum12.1
21polh-related xeroderma pigmentosum12.1
22xpa-related xeroderma pigmentosum12.1
23xpc-related xeroderma pigmentosum12.1
24chromosome xp deletion12.0
25cockayne syndrome, type a10.9
26cockayne syndrome10.9
27melanoma10.6
28basal cell carcinoma10.6
29cone-rod dystrophy x-linked 210.5ERCC6, ERCC8
30acrodermatitis enteropathica10.5ERCC1, ERCC2, ERCC3
31pancreatic cystadenoma10.4ERCC1, ERCC4, XPA
32fanconi anemia, complementation group q10.4ERCC1, ERCC4
33uv-sensitive syndrome 210.4ERCC6, ERCC8
34asthenopia10.4ERCC2, TP53, XPA
35angiosarcoma10.4
36cerebrooculofacioskeletal syndrome 310.4
37bullous keratopathy10.4ERCC2, TP53, XPA
38combined hyperactive dysfunction syndrome of the cranial nerves10.4ERCC2, ERCC3, ERCC4, ERCC5
39ataxia10.4
403-methylglutaconic aciduria, type i10.3ERCC4, RPA1, XPA, XPC
41may-thurner syndrome10.3ERCC4, ERCC6, ERCC8
42aggressive digital papillary adenocarcinoma10.3ERCC1, TP53
43prostate cancer10.3
44breast cancer10.3
45gastric cancer10.3
46prostatitis10.3
47exostoses, multiple, type 210.3DDB1, DDB2, XPC
48cockayne syndrome, type b10.3
49cockayne syndrome type iii10.3ERCC1, ERCC6, ERCC8
50stroma-dominant and stroma-poor composite ganglioneuroblastoma10.3ERCC2, TP53, XRCC1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms for Xeroderma Pigmentosum, Variant Type

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Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Symptoms:

 52 (show all 13)
  • keratitis
  • photophobia
  • hyperpigmentation of the skin
  • dry skin
  • cutaneous photosensitivity
  • telangiectasia
  • hypopigmentation of the skin
  • poikiloderma
  • basal cell carcinoma
  • squamous cell carcinoma
  • melanoma
  • dermal atrophy
  • freckles in sun-exposed areas

HPO human phenotypes related to Xeroderma Pigmentosum, Variant Type:

(show all 58)
id Description Frequency HPO Source Accession
1 cutaneous photosensitivity hallmark (90%) HP:0000992
2 poikiloderma hallmark (90%) HP:0001029
3 freckling hallmark (90%) HP:0001480
4 verrucae hallmark (90%) HP:0200043
5 abnormality of the teeth hallmark (90%) HP:0000164
6 conjunctival telangiectasia hallmark (90%) HP:0000524
7 optic atrophy hallmark (90%) HP:0000648
8 dry skin hallmark (90%) HP:0000958
9 thin skin hallmark (90%) HP:0000963
10 eeg abnormality hallmark (90%) HP:0002353
11 developmental regression hallmark (90%) HP:0002376
12 arthralgia hallmark (90%) HP:0002829
13 abnormality of temperature regulation hallmark (90%) HP:0004370
14 cognitive impairment hallmark (90%) HP:0100543
15 telangiectasia of the skin hallmark (90%) HP:0100585
16 dry skin typical (50%) HP:0000958
17 telangiectasia of the skin typical (50%) HP:0100585
18 cryptorchidism typical (50%) HP:0000028
19 sensorineural hearing impairment typical (50%) HP:0000407
20 strabismus typical (50%) HP:0000486
21 cataract typical (50%) HP:0000518
22 hyperkeratosis typical (50%) HP:0000962
23 hypermelanotic macule typical (50%) HP:0001034
24 hypopigmented skin patches typical (50%) HP:0001053
25 melanoma typical (50%) HP:0002861
26 verrucae typical (50%) HP:0200043
27 microcephaly occasional (7.5%) HP:0000252
28 blepharitis occasional (7.5%) HP:0000498
29 photophobia occasional (7.5%) HP:0000613
30 melanocytic nevus occasional (7.5%) HP:0000995
31 pterygium occasional (7.5%) HP:0001059
32 seizures occasional (7.5%) HP:0001250
33 hypertonia occasional (7.5%) HP:0001276
34 reduced tendon reflexes occasional (7.5%) HP:0001315
35 alopecia occasional (7.5%) HP:0001596
36 abnormality of extrapyramidal motor function occasional (7.5%) HP:0002071
37 cerebral cortical atrophy occasional (7.5%) HP:0002120
38 incoordination occasional (7.5%) HP:0002311
39 delayed skeletal maturation occasional (7.5%) HP:0002750
40 aminoaciduria occasional (7.5%) HP:0003355
41 short stature occasional (7.5%) HP:0004322
42 craniofacial hyperostosis occasional (7.5%) HP:0004493
43 opacification of the corneal stroma occasional (7.5%) HP:0007759
44 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
45 peripheral neuropathy occasional (7.5%) HP:0009830
46 neoplasm of the eye occasional (7.5%) HP:0100012
47 neoplasm of the oral cavity occasional (7.5%) HP:0100649
48 keratitis HP:0000491
49 conjunctivitis HP:0000509
50 photophobia HP:0000613
51 entropion HP:0000621
52 ectropion HP:0000656
53 cutaneous photosensitivity HP:0000992
54 poikiloderma HP:0001029
55 basal cell carcinoma HP:0002671
56 squamous cell carcinoma HP:0002860
57 dermal atrophy HP:0004334
58 cutaneous melanoma HP:0012056

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

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Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomidePhase 2691191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2
ThalidomidePhase 2106050-35-15426
Synonyms:
( inverted question mark)-Thalidomide
(+)-Thalidomide
(+-)-N-(2,6-dioxo-3-Piperidyl)phthalimide
(+-)-Thalidomide
(+/-)-THALIDOMIDE
(?)-Thalidomide
(±)-N-(2,6-dioxo-3-piperidyl)phthalimide
(±)-thalidomide
.alpha.-(N-Phthalimido)glutarimide
.alpha.-N-Phthalylglutaramide
.alpha.-Phthalimidoglutarimide
1,3-dioxo-2-(2,6-dioxopiperidin-3-yl)isoindoline
14088-68-7
2,6-Dioxo-3-phthalimidopiperidine
2,6-dioxo-3-phthalimidopiperidine
3-Phthalimidoglutarimide
50-35-1
731-40-8
AB00052362
AC-917
AC1L1KBZ
AC1Q6FJA
AI3-50606
Algosediv
Asidon 3
Asmadion
Asmaval
BPBio1_000159
BRD-A93255169-001-06-9
BRN 0030233
BSPBio_000143
BSPBio_001156
BSPBio_003330
Bio1_000387
Bio1_000876
Bio1_001365
Bio2_000418
Bio2_000898
Bonbrain
Bonbrrin
C07910
C13H10N2O4
CCRIS 8148
CHEBI:105028
CHEMBL468
CID5426
CPD000058524
Calmore
Calmorex
Celgene Brand of Thalidomide
Contergan
Corronarobetin
D00754
D013792
DB01041
Distaval
Distaxal
Distoval
DivK1c_000051
E-217
EINECS 200-031-1
ENMD 0995
EU-0101224
Ectiluran
Enterosediv
Gastrinide
Glupan
Glutanon
Grippex
HMS1362J17
HMS1568H05
HMS1792J17
HMS1922E12
HMS1990J17
HMS2090O05
HMS2093G15
HMS500C13
HSDB 3586
Hippuzon
I06-0197
IDI1_000051
IDI1_002173
IN1061
Imida-Lab
Imida-lab
Imidan
Imidan (peyta)
Imidene
Isomin
K 17
K-17
KBio1_000051
KBio2_000496
KBio2_002322
KBio2_003064
KBio2_004890
KBio2_005632
KBio2_007458
KBio3_000911
KBio3_000912
KBio3_002550
KBio3_002802
KBioGR_000496
KBioGR_001474
KBioGR_002322
KBioSS_000496
KBioSS_002324
Kedavon
Kevadon
LS-109463
LS-140
Lopac0_001224
Lulamin
MLS000069353
MolPort-003-665-582
N-(2,6-Dioxo-3-piperidyl)phthalimide
N-(2,6-dioxo-3-piperidyl)phthalimide
N-Phthalimidoglutamic acid imide
N-Phthaloylglutamimide
N-Phthalyl-glutaminsaeure-imid
N-Phthalyl-glutaminsaeure-imid [German]
N-Phthalylglutamic acid imide
NCGC00015989-03
NCGC00015989-13
NCGC00024708-02
 
NCGC00024708-03
NCGC00024708-04
NCGC00024708-05
NCGC00024708-06
NCGC00024708-07
NCGC00024708-08
NCGC00024708-09
NCI60_023904
NCIOpen2_003188
NINDS_000051
NSC 527179
NSC-66847
NSC527179
NSC66847
NSC91729
NSC91730
Neaufatin
Neo
Neosedyn
Neosydyn
Nerosedyn
Neufatin
Neurodyn
Neurosedin
Neurosedym
Neurosedyn
Nevrodyn
Nibrol
Noctosediv
Noxodyn
Pangul
Pantosediv
Poly-Giron
Polygripan
Predni-Sediv
Prestwick0_000192
Prestwick1_000192
Prestwick2_000192
Prestwick3_000192
Prestwick_463
Pro-Bam M
Pro-ban M
Profarmil
Psycholiquid
Psychotablets
Quetimid
Quietoplex
S1193_Selleck
SAM002564245
SMR000058524
SPBio_000893
SPBio_002064
SPECTRUM1503607
ST51039042
Sandormin
Sedalis
Sedalis sedi-lab
Sedimide
Sedin
Sedisperil
Sedoval
Shin-naito S
Shinnibrol
Sleepan
Slipro
Softenil
Softenon
Spectrum2_000707
Spectrum3_001715
Spectrum4_001087
Spectrum5_001791
Synovir
T144_SIGMA
T150_SIGMA
T151_SIGMA
THALIDOMIDE (AIDS INITIATIVE)
Talargan
Talidomida
Talidomida [INN-Spanish]
Talidomide
Talidomide [DCIT]
Talimol
Talismol
Talizer
Telagan
Telargan
Telargean
Tensival
Thaled
Thaled (TN)
Thalidomide
Thalidomide (+ and -)
Thalidomide (JAN/USP/INN)
Thalidomide (soluble form)
Thalidomide Celgene
Thalidomide Pharmion
Thalidomide [USAN:INN:BAN]
Thalidomidum
Thalidomidum [INN-Latin]
Thalidomine USP26
Thalin
Thalinette
Thalomid
Thalomid (TM)
Thalomid (TN)
Thalomid, Thalidomide
Thalomide
Theophilcholine
UNII-4Z8R6ORS6L
UPCMLD-DP139
UPCMLD-DP139:001
Valgis
Valgraine
WLN: T56 BVNVJ C- DT6VMVTJ
WLN: T56 BVNVJ C- DT6VMVTJ -D
WLN: T56 BVNVJ C- DT6VMVTJ -L
Yodomin
alpha-(N-Phthalimido)glutarimide
alpha-N-Phthalylglutaramide
alpha-Phthalimidoglutarimide
alpha-phthalimidoglutarimide
cMAP_000022
thalidomide
α-(N-phthalimido)glutarimide
α-N-phthalylglutaramide
α-phthalimidoglutarimide
3
Isotretinoin1174759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
D00348
D015474
EINECS 225-296-0
EU-0101081
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
Isotretinoin Retinoic acid
 
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumActive, not recruitingNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
4Isotretinoin in Preventing Skin CancerCompletedNCT00025012
5Xeroderma Pigmentosum Patient ExperiencesRecruitingNCT01123694
6Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
7Cancer Risk in Carriers of the Gene for Xeroderma PigmentosumRecruitingNCT00046189
8Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type


Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

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Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type25
2 Xeroderma Pigmentosum25 23 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

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MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

34
Skin, Eye

Animal Models for Xeroderma Pigmentosum, Variant Type or affiliated genes

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MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

39 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1ERCC1, ERCC2, ERCC6, RAD23B, TP53, XPA
2MP:00053708.7CUL4A, ERCC1, ERCC4, ERCC5, ERCC6, TP53
3MP:00107718.0DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
4MP:00053917.6CETN2, DDB1, ERCC2, ERCC6, ERCC8, RAD23B
5MP:00053867.5ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, RAD23B
6MP:00053977.4CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
7MP:00053877.2CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
8MP:00020067.1CUL4A, DDB2, ERCC1, ERCC2, ERCC3, ERCC6
9MP:00053766.1CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
10MP:00053785.7CETN2, CUL4A, DDB2, ERCC1, ERCC2, ERCC3
11MP:00053845.0CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12MP:00107684.1CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Publications for Xeroderma Pigmentosum, Variant Type

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Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

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UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

68
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227rs758423288
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236rs121908565
7POLHp.Arg93ProVAR_070836rs756931657
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839rs199562456

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1POLHNM_006502.2(POLH): c.764+1G> Asingle nucleotide variantPathogenicrs772570523GRCh38Chr 6, 43601092: 43601092
2POLHNM_006502.2(POLH): c.907C> T (p.Arg303Ter)single nucleotide variantPathogenicrs759607901GRCh38Chr 6, 43604637: 43604637
3POLHPOLH, 13-BP DEL, NT343deletionPathogenic
4POLHPOLH, 4-BP DEL, NT289deletionPathogenic
5POLHPOLH, 2-BP DEL, NT770deletionPathogenic
6POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)single nucleotide variantPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
7POLHPOLH, DEL AND TRP297TERdeletionPathogenic
8POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)single nucleotide variantPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
9POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)single nucleotide variantPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
10POLHPOLH, 104-BP DEL, NT661deletionPathogenic
11POLHPOLH, 1-BP DEL, 207GdeletionPathogenic
12POLHPOLH, 3-BP DEL, NT222deletionPathogenic
13POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)single nucleotide variantPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
14POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)single nucleotide variantPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7ERCC2, ERCC3, ERCC6
2
Show member pathways
9.5ERCC1, ERCC4, POLH, RPA1
3
Show member pathways
9.5DDB2, ERCC5, TP53, XPC
49.3ERCC2, ERCC3, TP53, XPA, XPC
5
Show member pathways
9.1ERCC1, ERCC4, POLH, RPA1, XRCC3
6
Show member pathways
9.1CETN2, RPA1, TP53, XPC
78.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, POLH
8
Show member pathways
8.6CUL4A, DDB1, POLH, RPA1, XRCC1
9
Show member pathways
7.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
106.3DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
11
Show member pathways
5.1CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12
Show member pathways
4.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
13
Show member pathways
3.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

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Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.9ERCC2, ERCC3
2ERCC4-ERCC1 complexGO:007052210.8ERCC1, ERCC4
3nucleotide-excision repair factor 1 complexGO:000011010.5ERCC1, ERCC4, XPA
4holo TFIIH complexGO:000567510.5ERCC2, ERCC3, ERCC5
5nucleotide-excision repair complexGO:000010910.5ERCC1, ERCC4, ERCC8
6DNA replication factor A complexGO:000566210.5ERCC5, RPA1, XPA
7transcription factor TFIID complexGO:000566910.4ERCC1, ERCC4, TP53
8Cul4B-RING E3 ubiquitin ligase complexGO:003146510.3DDB1, DDB2
9XPC complexGO:007194210.2CETN2, RAD23B, XPC
10replication forkGO:000565710.2TP53, XRCC3
11Cul4-RING E3 ubiquitin ligase complexGO:008000810.0CUL4A, DDB1
12Cul4A-RING E3 ubiquitin ligase complexGO:00314649.6CUL4A, DDB1, ERCC8
13nuclear chromosome, telomeric regionGO:00007849.4DDB1, ERCC1, ERCC4, RPA1, XRCC3
14nucleusGO:00056345.4DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
15nucleoplasmGO:00056544.4CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.7ERCC4, XPA
2negative regulation of telomere maintenanceGO:003220510.7ERCC1, ERCC4
3error-free translesion synthesisGO:007098710.7POLH, RPA1
4response to auditory stimulusGO:001099610.6XPA, XPC
5response to UV-BGO:001022410.6ERCC6, XPC
6response to UV-CGO:001022510.5ERCC5, POLH
7hair cell differentiationGO:003531510.5ERCC2, ERCC3
8t-circle formationGO:009065610.4ERCC1, XRCC3
9transcription elongation from RNA polymerase I promoterGO:000636210.3ERCC2, ERCC3, ERCC6
10embryonic organ developmentGO:004856810.2ERCC1, ERCC3, RAD23B
11histone H2A monoubiquitinationGO:003551810.1DDB1, DDB2
12DNA recombinationGO:000631010.0ERCC1, RPA1, XRCC3
13pyrimidine dimer repairGO:000629010.0DDB2, ERCC6, POLH
14UV protectionGO:00096509.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
15double-strand break repair via homologous recombinationGO:00007249.8ERCC4, RPA1, XRCC1, XRCC3
16multicellular organism growthGO:00352649.8ERCC1, ERCC2, ERCC6, XPA
17regulation of mitotic cell cycle phase transitionGO:19019909.8DDB1, ERCC2, ERCC3, XPC
18regulation of proteasomal ubiquitin-dependent protein catabolic processGO:00324349.8RAD23A, RAD23B
19UV-damage excision repairGO:00709149.7DDB1, DDB2, XPA, XPC
20interstrand cross-link repairGO:00362979.7ERCC1, ERCC4, RPA1, XRCC3
21response to X-rayGO:00101659.7ERCC1, ERCC6, ERCC8, TP53
22protein sumoylationGO:00169259.7CETN2, RPA1, TP53, XPC
23response to oxidative stressGO:00069799.1ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, XPA
24DNA damage response, detection of DNA damageGO:00427699.0CUL4A, DDB1, RPA1
25response to UVGO:00094118.7DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
26base-excision repairGO:00062848.7ERCC6, RPA1, TP53, XPA, XRCC1
27nucleotide-excision repair, DNA damage recognitionGO:00007158.3CETN2, CUL4A, DDB1, DDB2, RAD23B, XPA
28proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431618.0CUL4A, DDB1, ERCC8, RAD23A, RAD23B, TP53
29nucleotide-excision repair, DNA incision, 3-to lesionGO:00062957.9CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
30nucleotide-excision repair, DNA incisionGO:00336837.9CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
31nucleotide-excision repair, DNA incision, 5-to lesionGO:00062967.8CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
32nucleotide-excision repair, preincision complex stabilizationGO:00062937.8CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
33nucleotide-excision repair, DNA duplex unwindingGO:00007177.8CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
34viral processGO:00160327.8CUL4A, DDB1, ERCC2, ERCC3, RAD23A, TP53
35nucleotide-excision repair, preincision complex assemblyGO:00062947.4CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
36global genome nucleotide-excision repairGO:00709117.4CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
37transcription-coupled nucleotide-excision repairGO:00062837.2CUL4A, DDB1, ERCC1, ERCC2, ERCC3, ERCC4
38DNA repairGO:00062817.1DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
39cellular response to DNA damage stimulusGO:00069746.6CUL4A, ERCC1, ERCC6, ERCC8, RAD23A, RAD23B
40nucleotide-excision repairGO:00062896.2CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040510.8ERCC5, XPC
2structure-specific DNA bindingGO:004356610.8ERCC1, ERCC4
3RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.7ERCC2, ERCC3
4TFIID-class transcription factor bindingGO:000109410.7ERCC1, ERCC4
5single-stranded DNA endodeoxyribonuclease activityGO:000001410.6ERCC1, ERCC4
6endodeoxyribonuclease activityGO:000452010.4ERCC4, ERCC5
7double-stranded DNA bindingGO:000369010.0ERCC5, TP53, XRCC3
8protein C-terminus bindingGO:00080229.7ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
9DNA-dependent ATPase activityGO:00080949.5ERCC2, ERCC3, ERCC6, ERCC8, XRCC3
10protein N-terminus bindingGO:00474859.5ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, TP53
11single-stranded DNA bindingGO:00036978.4ERCC1, ERCC4, ERCC5, RAD23A, RAD23B, RPA1
12damaged DNA bindingGO:00036847.0DDB1, DDB2, ERCC1, ERCC3, ERCC4, POLH
13protein bindingGO:00055153.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Sources for Xeroderma Pigmentosum, Variant Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet